The H syndrome is caused by mutations in the nucleoside transporter hENT3.
The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three mutations were found in 11 families of Arab and Bulgarian origin. The finding of several different mutations in a small geographic region implies that the H syndrome might be rather common. The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder.
Molho-Pessach
Vered
V
Department of Dermatology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.
Lerer
Israela
I
Abeliovich
Dvorah
D
Agha
Ziad
Z
Abu Libdeh
Abdulasalam
A
Broshtilova
Valentina
V
Elpeleg
Orly
O
Zlotogorski
Abraham
A
D000595:Amino Acid Sequence; D005260:Female; D006720:Homozygote; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis / Q000235:genetics*; D006983:Hypertrichosis / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human